ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.316G>A (p.Glu106Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003501623 SCV004353514 uncertain significance Glanzmann thrombasthenia 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 106 of the ITGA2B protein (p.Glu106Lys). This variant is present in population databases (rs775401384, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992776 SCV004809369 uncertain significance Glanzmann thrombasthenia 1 2024-04-04 criteria provided, single submitter clinical testing

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